Berg, Jonathan

DDD Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

Research output: Contribution to journal › Article

Intellectual Disability

Amish

Eyebrows

Phenotype

Craniosynostoses

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., 29 Mar 2019, In : Genetics in Medicine.

Research output: Contribution to journal › Article

Language Development Disorders

Phenotype

Inheritance Patterns

Microcephaly

Pain Threshold

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U., Joss, S. & 32 others, von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journal › Article

Gene Components

Histone Acetyltransferases

Autistic Disorder

Intellectual Disability

Genetic Association Studies

1 Citation (Scopus)

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Cleaver, R., Berg, J., Craft, E., Foster, A., Gibbons, R. J., Hobson, E., Lachlan, K., Naik, S., Sampson, J. R., Sharif, S., Smithson, S., Parker, M. J. & Tatton-Brown, K., 1 Mar 2019, In : American Journal of Medical Genetics, Part A. 179, 3, p. 344-349 6 p.

Research output: Contribution to journal › Article

Phenotype

Megalencephaly

Exome

Muscle Hypotonia

Cryptorchidism

Urinary desmosine, a biomarker of elastin degradation is significantly elevated and associated with maximum aortic root size and aortic Z-scores in patients with bicuspid aortic valve

Iskandar, Z., Huang, J., Miller, L., Chin, C., Mordi, I., Mcwilliam, C., Goudie, D., Berg, J., Neagoie, A., Lang, C. & Choy, A-M., 26 May 2019, In : Heart. 105, Supplement 6, p. A103-A104 2 p., 126.

Research output: Contribution to journal › Meeting abstract

Desmosine

Elastin

Biomarkers

Bicuspid Aortic Valve

Dilatation